Canonical Allele Identifier: CA383456364

Gene: KCNA1

Linked Data

• gnomAD v4: 12-4912628-G-A
• MyVariant Identifiers: chr12:g.5021794G>A (hg19) ; chr12:g.4912628G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.4912628G>A , CM000674.2:g.4912628G>A	GRCh38
NC_000012.11:g.5021794G>A , CM000674.1:g.5021794G>A	GRCh37
NC_000012.10:g.4892055G>A	NCBI36
NG_011815.1:g.7722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382545.5:c.1250G>A MANE Select	ENSP00000371985.3:p.Arg417Gln
ENST00000543874.3:n.105+2156G>A
ENST00000639306.1:c.1088G>A	ENSP00000492506.1:p.Arg363Gln
ENST00000639680.1:c.76+362G>A
ENST00000382545.3:c.1250G>A	ENSP00000371985.3:p.Arg417Gln
ENST00000541095.1:n.105+2156G>A
ENST00000543874.2:n.96+2156G>A
NM_000217.2:c.1250G>A	NP_000208.2:p.Arg417Gln
NM_000217.3:c.1250G>A MANE Select	NP_000208.2:p.Arg417Gln